Mutagenetix > Incidental Mutations

Incidental Mutation 'R0732:Tcf20'

67693

Institutional Source

Beutler Lab

Gene Symbol

Tcf20

Ensembl Gene

ENSMUSG00000041852

Gene Name

transcription factor 20

Synonyms

stromelysin 1 PDGF responsive element binding protein, 2810438H08Rik, SPBP

MMRRC Submission

038913-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.687) question?

Stock #

R0732 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82808436-82987872 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82852303 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1649 (L1649P)

Ref Sequence

ENSEMBL: ENSMUSP00000105136 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048966] [ENSMUST00000109510] [ENSMUST00000229439] [ENSMUST00000229547] [ENSMUST00000230403]

AlphaFold

Q9EPQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000048966
AA Change: L1649P

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: L1649P

Domain	Start	End	E-Value	Type
low complexity region	42	74	N/A	INTRINSIC
coiled coil region	163	203	N/A	INTRINSIC
low complexity region	248	277	N/A	INTRINSIC
low complexity region	322	354	N/A	INTRINSIC
low complexity region	396	416	N/A	INTRINSIC
low complexity region	443	456	N/A	INTRINSIC
low complexity region	481	489	N/A	INTRINSIC
low complexity region	511	523	N/A	INTRINSIC
low complexity region	684	715	N/A	INTRINSIC
low complexity region	1047	1056	N/A	INTRINSIC
low complexity region	1532	1544	N/A	INTRINSIC
low complexity region	1577	1593	N/A	INTRINSIC
low complexity region	1602	1617	N/A	INTRINSIC
low complexity region	1793	1804	N/A	INTRINSIC
low complexity region	1860	1874	N/A	INTRINSIC
PHD	1913	1960	6.7e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109510
AA Change: L1649P

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: L1649P

Domain	Start	End	E-Value	Type
low complexity region	42	74	N/A	INTRINSIC
coiled coil region	163	203	N/A	INTRINSIC
low complexity region	248	277	N/A	INTRINSIC
low complexity region	322	354	N/A	INTRINSIC
low complexity region	396	416	N/A	INTRINSIC
low complexity region	443	456	N/A	INTRINSIC
low complexity region	481	489	N/A	INTRINSIC
low complexity region	511	523	N/A	INTRINSIC
low complexity region	684	715	N/A	INTRINSIC
low complexity region	1047	1056	N/A	INTRINSIC
low complexity region	1532	1544	N/A	INTRINSIC
low complexity region	1577	1593	N/A	INTRINSIC
low complexity region	1602	1617	N/A	INTRINSIC
low complexity region	1793	1804	N/A	INTRINSIC
low complexity region	1860	1874	N/A	INTRINSIC
PHD	1913	1960	6.7e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000229439

Predicted Effect

probably benign
Transcript: ENSMUST00000229547

Predicted Effect

probably benign
Transcript: ENSMUST00000230403

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that recognizes the platelet-derived growth factor-responsive element in the matrix metalloproteinase 3 promoter. The encoded protein is thought to be a transcriptional coactivator, enhancing the activity of transcription factors such as JUN and SP1. Mutations in this gene are associated with autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,546,448	Y1175C	probably damaging	Het
Acsm3	T	C	7: 119,773,834	S187P	probably benign	Het
Adam28	T	C	14: 68,637,347	I294V	probably benign	Het
Adgrv1	T	C	13: 81,503,004	I3057M	possibly damaging	Het
Aff4	T	C	11: 53,375,596	V304A	probably benign	Het
Akr1b10	T	C	6: 34,390,109	Y108H	probably benign	Het
Ankib1	T	C	5: 3,713,163	N522S	possibly damaging	Het
Ano1	T	A	7: 144,619,488		probably null	Het
Antxr2	G	T	5: 97,960,708		probably null	Het
Arc	G	A	15: 74,671,195	T393I	probably damaging	Het
Arhgef33	A	G	17: 80,381,354	D5G	possibly damaging	Het
Atf2	A	T	2: 73,845,500	M169K	possibly damaging	Het
BC005624	T	A	2: 30,973,937	T215S	possibly damaging	Het
BC048403	T	C	10: 121,750,947	V253A	possibly damaging	Het
Bmp8b	G	A	4: 123,105,406	G19D	unknown	Het
Cacna1d	T	C	14: 30,042,920	N1987S	probably damaging	Het
Camta1	T	A	4: 151,586,484		probably null	Het
Catsperg2	C	T	7: 29,700,696	G316D	probably damaging	Het
Cbs	G	T	17: 31,625,029	N209K	probably benign	Het
Ccdc122	T	A	14: 77,091,759	M84K	probably damaging	Het
Cd5	C	T	19: 10,723,285	C285Y	probably damaging	Het
Chpf2	T	C	5: 24,590,421	M1T	probably null	Het
Coch	T	A	12: 51,595,372	D42E	probably damaging	Het
Crip2	C	T	12: 113,140,558		probably benign	Het
Crlf2	G	C	5: 109,557,138	P67R	probably damaging	Het
Cxcl16	G	T	11: 70,455,408	P233H	probably damaging	Het
Cyfip1	T	C	7: 55,886,781	I319T	probably damaging	Het
Ddhd2	T	C	8: 25,741,321	Q364R	probably damaging	Het
Ephx2	A	G	14: 66,086,963		probably null	Het
Exoc6b	C	A	6: 84,855,522	V397L	probably damaging	Het
Fam83b	T	A	9: 76,492,928	K298*	probably null	Het
Fbxo8	T	A	8: 56,591,529	I289N	probably damaging	Het
Fkbp9	T	A	6: 56,878,104	M536K	probably benign	Het
Flot1	C	T	17: 35,825,524	R190W	possibly damaging	Het
Gbp2b	T	A	3: 142,606,978	V374E	probably benign	Het
Gm884	T	C	11: 103,619,838	T435A	unknown	Het
Gna15	T	A	10: 81,512,556	S114C	probably damaging	Het
Gstt4	T	A	10: 75,817,321	T136S	probably benign	Het
Hcn3	C	T	3: 89,148,786	V524M	probably damaging	Het
Kctd16	A	T	18: 40,258,563	D68V	probably damaging	Het
Krt90	G	T	15: 101,560,425	F227L	possibly damaging	Het
Maip1	A	G	1: 57,411,835	Y212C	probably damaging	Het
Mamdc2	C	T	19: 23,378,869	D72N	probably damaging	Het
Marveld3	A	T	8: 109,948,483	Y234N	probably damaging	Het
Mas1	A	G	17: 12,841,747	I263T	probably benign	Het
Matk	T	A	10: 81,258,306		probably null	Het
Mrgpre	T	A	7: 143,781,566	I67F	possibly damaging	Het
Mthfd1	T	A	12: 76,294,174	I449N	probably damaging	Het
Nacc1	C	T	8: 84,676,201	R321Q	probably damaging	Het
Neb	T	C	2: 52,258,681	D2618G	probably damaging	Het
Neb	T	C	2: 52,291,268	Y1109C	probably damaging	Het
Nell1	T	G	7: 50,856,387	W781G	probably damaging	Het
Olfr1037	A	C	2: 86,085,584	S64R	probably benign	Het
Olfr1269	A	G	2: 90,119,322	V92A	probably benign	Het
Olfr1279	T	A	2: 111,306,980	Y258*	probably null	Het
Olfr281	T	C	15: 98,457,078	L256S	possibly damaging	Het
Olfr424	A	T	1: 174,137,415	I224F	possibly damaging	Het
Olfr497	C	A	7: 108,422,577	A2D	probably benign	Het
Olfr544	T	C	7: 102,484,443	I226V	probably benign	Het
Olfr646	T	C	7: 104,106,294	L5P	probably damaging	Het
Pcdh7	C	A	5: 57,721,315	D737E	probably damaging	Het
Pdss1	T	G	2: 22,901,312	M55R	probably benign	Het
Pex6	C	T	17: 46,724,700	R889W	probably damaging	Het
Pigl	T	A	11: 62,458,481	C8S	possibly damaging	Het
Plekha7	A	T	7: 116,145,237	M585K	probably damaging	Het
Ppp1r1a	C	T	15: 103,533,087	M66I	possibly damaging	Het
Ptcd3	A	T	6: 71,881,171		probably benign	Het
Rhov	A	T	2: 119,271,014	V37E	probably damaging	Het
Rnf213	A	T	11: 119,441,068	M2368L	probably damaging	Het
Skida1	T	C	2: 18,046,157		probably benign	Het
Slc25a28	T	C	19: 43,666,953	D161G	probably benign	Het
Smc6	T	C	12: 11,290,817	V490A	probably damaging	Het
Sohlh2	T	A	3: 55,190,373		probably null	Het
Stk31	A	G	6: 49,417,495	T264A	probably benign	Het
Syngap1	T	A	17: 26,954,988	S190R	possibly damaging	Het
Tacr1	T	A	6: 82,552,901	V200E	probably damaging	Het
Tbrg4	C	T	11: 6,620,812	R220H	probably benign	Het
Tcirg1	A	T	19: 3,897,866	L523Q	possibly damaging	Het
Tinag	T	A	9: 77,001,654	K335M	possibly damaging	Het
Tkt	T	G	14: 30,571,140		probably null	Het
Tnpo1	C	T	13: 98,863,812	R349H	probably damaging	Het
Trim26	T	A	17: 36,852,618	S230R	possibly damaging	Het
Trim8	T	A	19: 46,514,739		probably null	Het
Trp53bp1	T	C	2: 121,248,264	R326G	probably null	Het
Ugt2a2	A	T	5: 87,460,639	I613N	probably damaging	Het
Vmn1r32	T	C	6: 66,553,706	I29V	probably benign	Het
Wnt5b	C	T	6: 119,446,582	W27*	probably null	Het

Other mutations in Tcf20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Tcf20	APN	15	82854895	missense	probably damaging	1.00
IGL00229:Tcf20	APN	15	82857142	missense	possibly damaging	0.50
IGL00539:Tcf20	APN	15	82852756	missense	probably benign	0.41
IGL00576:Tcf20	APN	15	82856075	missense	probably damaging	1.00
IGL01135:Tcf20	APN	15	82853900	missense	probably benign
IGL01670:Tcf20	APN	15	82855363	missense	possibly damaging	0.77
IGL01684:Tcf20	APN	15	82857160	missense	probably damaging	1.00
IGL01767:Tcf20	APN	15	82856008	missense	probably damaging	1.00
IGL01825:Tcf20	APN	15	82852966	missense	probably benign
IGL01834:Tcf20	APN	15	82855697	missense	probably damaging	0.99
IGL01836:Tcf20	APN	15	82855155	missense	probably damaging	0.99
IGL02415:Tcf20	APN	15	82853459	missense	probably benign	0.28
IGL02731:Tcf20	APN	15	82853237	missense	probably benign	0.00
IGL02739:Tcf20	APN	15	82856080	missense	probably damaging	1.00
IGL03058:Tcf20	APN	15	82852004	missense	probably damaging	0.96
PIT4131001:Tcf20	UTSW	15	82851584	missense	probably damaging	0.96
R0184:Tcf20	UTSW	15	82852300	missense	probably damaging	0.99
R0207:Tcf20	UTSW	15	82855085	missense	probably benign
R1502:Tcf20	UTSW	15	82855576	missense	probably damaging	1.00
R1575:Tcf20	UTSW	15	82855492	missense	probably benign	0.19
R1719:Tcf20	UTSW	15	82852777	missense	probably benign	0.03
R1997:Tcf20	UTSW	15	82857230	nonsense	probably null
R2152:Tcf20	UTSW	15	82855602	missense	probably damaging	1.00
R2173:Tcf20	UTSW	15	82854692	missense	possibly damaging	0.62
R2288:Tcf20	UTSW	15	82851685	missense	probably benign
R4049:Tcf20	UTSW	15	82853429	missense	probably damaging	1.00
R4496:Tcf20	UTSW	15	82854984	missense	probably damaging	1.00
R4704:Tcf20	UTSW	15	82851727	missense	possibly damaging	0.49
R4892:Tcf20	UTSW	15	82854199	missense	possibly damaging	0.80
R5164:Tcf20	UTSW	15	82856603	missense	probably damaging	1.00
R5207:Tcf20	UTSW	15	82856185	missense	probably damaging	0.98
R5219:Tcf20	UTSW	15	82856381	missense	probably damaging	1.00
R5228:Tcf20	UTSW	15	82855955	missense	probably benign	0.01
R5288:Tcf20	UTSW	15	82855709	missense	possibly damaging	0.50
R5374:Tcf20	UTSW	15	82851957	missense	probably damaging	0.99
R5384:Tcf20	UTSW	15	82856199	missense	probably damaging	0.99
R5677:Tcf20	UTSW	15	82853242	missense	probably benign	0.05
R5897:Tcf20	UTSW	15	82851783	nonsense	probably null
R6089:Tcf20	UTSW	15	82853208	missense	probably benign	0.06
R6196:Tcf20	UTSW	15	82851986	missense	possibly damaging	0.89
R6229:Tcf20	UTSW	15	82854880	missense	probably damaging	1.00
R6448:Tcf20	UTSW	15	82852660	missense	probably benign
R6688:Tcf20	UTSW	15	82854535	missense	possibly damaging	0.68
R7009:Tcf20	UTSW	15	82854682	missense	probably benign	0.07
R7051:Tcf20	UTSW	15	82856078	missense	probably damaging	1.00
R7215:Tcf20	UTSW	15	82853489	missense	probably benign
R7486:Tcf20	UTSW	15	82853734	missense	possibly damaging	0.78
R7583:Tcf20	UTSW	15	82855276	missense	possibly damaging	0.82
R7678:Tcf20	UTSW	15	82851565	missense	possibly damaging	0.92
R8090:Tcf20	UTSW	15	82856006	missense	probably damaging	1.00
R8156:Tcf20	UTSW	15	82852937	missense	probably benign	0.00
R8191:Tcf20	UTSW	15	82853405	nonsense	probably null
R8259:Tcf20	UTSW	15	82852273	missense	probably damaging	1.00
R8339:Tcf20	UTSW	15	82852676	missense	probably benign	0.04
R8447:Tcf20	UTSW	15	82853236	missense	possibly damaging	0.77
R8497:Tcf20	UTSW	15	82855951	missense	probably benign	0.07
R8728:Tcf20	UTSW	15	82854957	missense	probably damaging	1.00
R8829:Tcf20	UTSW	15	82855714	missense	probably damaging	1.00
R8861:Tcf20	UTSW	15	82852525	missense	probably damaging	0.99
R9177:Tcf20	UTSW	15	82856504	missense	probably benign	0.00
R9268:Tcf20	UTSW	15	82856504	missense	probably benign	0.00
R9294:Tcf20	UTSW	15	82852696	missense	probably benign	0.11
RF019:Tcf20	UTSW	15	82851593	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGAAGACTCTGTTACCACAGGCCC -3'
(R):5'- GGCAGCACCACTAATCTTTCCTGAC -3'

Sequencing Primer
(F):5'- TGAAGCTGGGAGCACCTTG -3'
(R):5'- CCTAAAGGGTATTTCCCATCAGG -3'

Posted On

2013-09-03